TMEM94, transmembrane protein 94, 9772

N. diseases: 103; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 CausalMutation disease CLINVAR
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.100 Biomarker disease HPO
CUI: C0265908
Disease: Congenital atresia of pulmonary artery
Congenital atresia of pulmonary artery 		0.100 Biomarker disease HPO
CUI: C0346326
Disease: Optic Nerve Glioma
Optic Nerve Glioma 		0.100 CausalMutation disease CLINVAR
CUI: C0431447
Disease: Synophrys
Synophrys 		0.100 Biomarker disease HPO
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		0.100 CausalMutation disease CLINVAR
CUI: C0585984
Disease: Laryngotracheomalacia
Laryngotracheomalacia 		0.100 CausalMutation disease CLINVAR
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		0.100 CausalMutation disease CLINVAR
CUI: C0749379
Disease: Thoracolumbar scoliosis
Thoracolumbar scoliosis 		0.100 CausalMutation disease CLINVAR
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.100 Biomarker disease HPO
CUI: C0920299
Disease: Overriding toe
Overriding toe 		0.100 Biomarker disease HPO
CUI: C0920299
Disease: Overriding toe
Overriding toe 		0.100 CausalMutation disease CLINVAR
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		0.100 CausalMutation disease CLINVAR
CUI: C1446712
Disease: Overlapping fingers
Overlapping fingers 		0.100 Biomarker disease HPO
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		0.100 CausalMutation disease CLINVAR
CUI: C4021875
Disease: Tall chin
Tall chin 		0.100 CausalMutation disease CLINVAR
CUI: C4025663
Disease: Abnormality of tibia morphology
Abnormality of tibia morphology 		0.100 CausalMutation disease CLINVAR
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		0.100 CausalMutation disease CLINVAR
CUI: C4025895
Disease: Abnormality of the scrotum
Abnormality of the scrotum 		0.100 CausalMutation disease CLINVAR
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.100 CausalMutation disease CLINVAR
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 Biomarker disease BEFREE Our study suggests the genetic etiology of a recognizable dysmorphic syndrome with NDD and CHD and highlights the role of TMEM94 in early development. 30526868 2018
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		0.010 Biomarker disease BEFREE Loss of Tmem94 in mouse model generated by CRISPR/Cas9 was embryonic lethal and led to craniofacial and cardiac abnormalities and abnormal neuronal migration pattern, suggesting that this gene is important in craniofacial, cardiovascular, and nervous system development. 30526868 2018
CUI: C4021817
Disease: Abnormality of head or neck
Abnormality of head or neck 		0.300 Biomarker phenotype GENOMICS_ENGLAND Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. 30526868 2018
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.100 CausalMutation phenotype CLINVAR
CUI: C0003862
Disease: Arthralgia
Arthralgia 		0.100 CausalMutation phenotype CLINVAR